Glycogen storage disease type 1a: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

J.P. Rake, AM ten Berge, G. Visser, E Verlindt, K.E. Niezen-Koning, C.H.C.M. Buys, G.P.A. Smit, H Scheffer

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)322-330
Number of pages9
JournalEuropean Journal of Pediatrics
Publication statusPublished - 2000


  • Econometric and Statistical Methods: General
  • Genetics
  • Geneeskunde(GENK)
  • Algemeen onderzoek

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